纤维蛋白原血症和低纤维蛋白原血症--斯洛伐克患者的致病变异谱。

Pub Date : 2024-07-29 DOI:10.5507/bp.2024.025

Dominika Jaraskova, Jan Chandoga, Angelika Batorova, Tatiana Prigancova, Miriama Juhosova, Pavol Durina, Alzbeta Vavrova, Silvia Dallemule, Robert Petrovic, Anna Kyselova, Denisa Jankovicova, Daniel Bohmer

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引用次数: 0

摘要

导言：先天性低纤维蛋白原血症（CH）和先天性纤维蛋白原血症（CD）是由纤维蛋白原基因的定量或定性缺陷引起的罕见凝血障碍疾病。本研究的目的是分析在斯洛伐克国家血友病中心登记的先天性纤维蛋白原缺乏症患者的遗传背景和临床表现：采用聚合酶链式反应对 36 名患者的纤维蛋白原基因 FGA、FGB 和 FGG 进行遗传分析，然后进行直接测序：结果：分子遗传学分析表明，在 CD 患者中发现了 6 个新型变体--FGA c.923_968dup p.(Gly324Lysfs*44) 和 FGG c.1105C>T p.(His369Tyr) 。在 CH 患者的 FGG 基因中，发现了 c.8G>A p.(Trp3*), c.823G>T p.(Glu275*) 和 c.323C>A p.(Ala108Asp) 变体。在 FGB 基因中发现了 c.1427C>T p.(Ser476Leu) 变体：这项研究为扩大先天性纤维蛋白原紊乱患者的基因变异知识做出了积极贡献。

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Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.

Introduction: Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. The aim of this study was to characterize the genetic background and the clinical manifestations of congenital fibrinogen disorders in the patients from Slovakia registered at the National Haemophilia Centre.

Materials and methods: Results of genetic analysis of the fibrinogen genes FGA, FGB and FGG using polymerase chain reaction followed by direct sequencing were evaluated in 36 patients.

Results: Molecular-genetic analysis revealed six novel variants - FGA c.923_968dup p.(Gly324Lysfs*44) and FGG c.1105C>T p.(His369Tyr) were identified in CD patients. In CH patients, in the FGG gene c.8G>A p.(Trp3*), c.823G>T p.(Glu275*) and c.323C>A p.(Ala108Asp) variants were detected. In the FGB gene c.1427C>T p.(Ser476Leu) was identified.

Conclusion: This study is a positive contribution towards expanding knowledge about genetic variants in patients with congenital fibrinogen disorders.

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